My genome, your genome, their genome… and then what?

Only 5% of the human genome has genes which code for proteins. This part of the genome is the part which has been studied most, and decades of experimental research and bioinformatics will still be needed before it is understood. What about the other 95%? This greater part of the genome used to be called junk DNA. But there may be far more to it than meets the scientists’ eye…

Sequencing THE human genome was a huge project that went on for years, and cost millions. It was accompanied by astonishing progress both in experimental technology and bioinformatics.

Only one human genome?

We talk about THE human genome as though there were only one for all of us. This, however, is not true. Every single human being has his or her unique genome. There are about 3 million differences between your genome and your neighbour’s! Or your parents’! ‘THE’ human genome the media were talking about is in fact the genome of a human that never existed, but the assembly of bits of genomes which belonged to different individuals.

My genome, please

Currently, there are many individual genome sequencing projects. Today, sequencing your own genome costs about one hundred dollars and is done within a week.

From genome to proteomes

Some bioinformatics tools are able to predict the position of a gene on a genome. Others can then predict the proteins produced by these genes. However predicting is not enough – you still need to find out if these proteins actually exist. So you go to the laboratory. This is exactly how the Human Proteome Project is being carried out. However, even within one person there is not one but a multitude of human proteomes, depending not only on the tissue but also the surrounding conditions, whether drugs have been taken or even the time of day. Thus the Human Proteome Project is also a huge undertaking. So much so that establishing all these proteomes relies on collaboration on an international scale.

And then what?

The progress made in the life sciences over these last years has been considerable, and continues to be so. Nevertheless, in research, every answer generates many more questions. If a protein exists, what does it do? How does it do it? Where is it in our bodies? How does it interact with other proteins? Is it involved in a disease? If so, which one? These are some of the challenges faced both by researchers in the laboratory and bioinformaticians.